Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome
β Scribed by Zhou, Jing; Gregory, Martin C; Hertz, Jens Michael; Barker, David F; Atkin, Curtis; Spencer, Edwin S; Tryggvason, Karl
- Book ID
- 109882329
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 881 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0085-2538
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π SIMILAR VOLUMES
A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions
About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gen